Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder
Brugger, Melanie, Brunet, Theresa, Wagner, Matias, Orec, Laura Elena, Schwaibold, Eva Maria Christina, Boy, Nikolas
Published in Gene (05.02.2021)
Published in Gene (05.02.2021)
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WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
Skorvanek, Matej, Rektorova, Irena, Mandemakers, Wim, Wagner, Matias, Steinfeld, Robert, Orec, Laura, Han, Vladimir, Pavelekova, Petra, Lackova, Alexandra, Kulcsarova, Kristina, Ostrozovicova, Miriam, Gdovinova, Zuzana, Plecko, Barbara, Brunet, Theresa, Berutti, Riccardo, Kuipers, Demy J.S., Boumeester, Valerie, Havrankova, Petra, Tijssen, M.A.J., Kaiyrzhanov, Rauan, Rizig, Mie, Houlden, Henry, Winkelmann, Juliane, Bonifati, Vincenzo, Zech, Michael, Jech, Robert
Published in Parkinsonism & related disorders (01.01.2022)
Published in Parkinsonism & related disorders (01.01.2022)
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PIGN encephalopathy: Characterizing the epileptology
Bayat, Allan, Valles‐Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro‐Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela‐Stanek, Aleksandra, Jouk, Pierre‐Simon, Keren, Boris, Kloth, Katja, Kluger, Gerhard, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos‐Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P. A., Stumpel, Constance T., Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.
Published in Epilepsia (Copenhagen) (01.04.2022)
Published in Epilepsia (Copenhagen) (01.04.2022)
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P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies
Boone, Philip, Faour, Kamli, Mohajeri, Kiana, Lemanski, John, Jana, Bimal, Fu, Jack, Kerkhof, Jennifer, McConkey, Haley, Collins, Ryan, Lucente, Diane, de Esch, Celine, Moysés-Oliveira, Mariana, Nuttle, Alexander, Domingo, Aloysius, Erdin, Serkan, Hanley, Maris, Watt, Amy, Surette, Eric, Lima, Gloria, Smith, Laura, Salani, Monica, Yadav, Rachita, Harripaul, Ricardo, O’Keefe, Kathryn, Burt, Nicholas, Larson, Matthew, Bhavsar, Riya, Currall, Benjamin, Sell, Susan, Ladda, Roger, Immken, LaDonna, Buchanan, Catherine, Yuan, Bo, Lynch, Sally, Gilissen, Christian, Pfundt, Rolph, Ockeloen, Charlotte, Kleefstra, Tjitske, Vanhoutte, Els, Sinnema, Margje, Stegmann, Sander, Stevens, Servi, Iascone, Maria, Maitz, Silvia, Cogne, Benjamin, Le Caignec, Cedric, Vincent, Marie, Nizon, Mathilde, Male, Alison, Agrawal, Pankaj, Thompson, Michelle, Torring, Pernille, Brasch-Andersen, Charlotte, Faivre, Laurence, Bruel, Ange-Line, Isidor, Bertrand, Philippe, Christophe, Morleo, Manuela, Wojcik, Monica, Genetti, Casie, Srivastava, Siddharth, Ballal, Sonia, Schließke, Sophia, Jamra, Rami Abou, Delahaye, Andree, von Wintzingerode, Lydia, Bothe, Viktoria, Houlier, Marine, Stout, Timothy, Bergant, Gaber, Peterlin, Borut, Moldovan, Oana, Martínez-Gil, Núria, Argilli, Emanuela, Sherr, Elliott, Harel, Tamar, Rosenberg-Fogler, Hallel, Rosenfeld, Jill, Wentzensen, Ingrid, Westphal, Dominik, Riedhammer, Korbinian, Orec, Laura, Gusella, James, Sadikovic, Bekim, Tai, Derek, Talkowski, Michael
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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